CAMK2A, calcium/calmodulin dependent protein kinase II alpha, 815
N. diseases: 87; N. variants: 23
Source: ALL
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.040 | 5 | 150251979 | splice donor variant | -/A | delins |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
Mental Disorders | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2017 | 2017 |